Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R418G
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ETV6

NM_001987.5:p.R418G

Associated Papers

Importins recognize the winged-helix fold of ETS transcription factors to mediate nuclear import.

McConville BM et al.

Biorxiv : the Preprint Server for Biology, 2026

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

A germline ETV6 mutation disrupts hematopoiesis via de novo creation of a nuclear export signal.

McConville M et al.

Science Advances, 2025

Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia.

Sato D et al.

Pediatric Hematology and Oncology, 2024

Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals.

McConville BM et al.

Biorxiv : the Preprint Server for Biology, 2024

Unveiling the signaling network of FLT3-ITD AML improves drug sensitivity prediction.

Latini S et al.

Elife, 2024

38564252 (PubMed )
Supplement: elife-90532-supp9.xlsx › OncoKB_mutations

In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation prevalence is lower than previously reported.

Anekpuritanang T et al.

Blood Advances, 2021

34559205 (PubMed )
Supplement: advancesADV2021004983-suppl1.pdf

Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia.

Kozubik KS et al.

Platelets, 2021

Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial.

Fenwarth L et al.

Haematologica, 2021

32554555 (PubMed )
Supplement: 2020_248872_FENWARTH_SUPPL.pdf

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nagata Y et al.

Nature Communications, 2019

31772163 (PubMed )
Supplement: 41467_2019_13001_MOESM4_ESM.xlsx › SuppData2_AllVariantswithClone

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6.

Järviaho T et al.

Blood Advances, 2019

ETV6-related thrombocytopenia and leukemia predisposition.

Di Paola J et al.

Blood, 2019

Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia.

Duployez N et al.

European Journal of Haematology, 2018

Germline ETV6 mutations and predisposition to hematological malignancies.

Feurstein S et al.

International Journal of Hematology, 2017

ETV6 in hematopoiesis and leukemia predisposition.

Hock H et al.

Seminars in Hematology, 2017

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.

Melazzini F et al.

Haematologica, 2016

ETV6 mutations define a new cancer predisposition syndrome.

Kirkpatrick G et al.

Oncotarget, 2015

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.

Topka S et al.

Plos Genetics, 2015

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

Noetzli L et al.

Nature Genetics, 2015

Functional consequences of somatic mutations in cancer using protein pocket-based prioritization approach.

Vuong H et al.

Genome Medicine, 2014

25360158 (PubMed )
Supplement: 13073_2014_81_MOESM1_ESM.xlsx › Table_S1

alpha-1-Antichymotrypsin gene A1252G variant (ACT Isehara-1) is associated with a lacunar type of ischemic cerebrovascular disease.

Tachikawa H et al.

Journal of Human Genetics, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."